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Biomedical subjects

F H Herrmann

Publications and source records attributed to F H Herrmann.

At least 91 records · Page 5Linked to original sources
PubMed1985

Diversity of glycoprotein deficiencies in Glanzmann's thrombasthenia.

The platelet proteins of 9 thrombasthenic patients from 7 families were analysed by high resolution two-dimensional gel electrophoresis (HR-2DE) and crossed immunoelectrophoresis (CIE). In 7 patients both glycoproteins (GPs) IIb and IIIa were absent or reduced to roughly the same extent. In two related patients only a trace of GP IIb-IIIa complex was detected in CIE, but HR-2DE revealed a glycopeptide in the position of GP IIIa in an amount comparable to type II thrombasthenia. This GP IIIa-like component was neither recognized normally by anti-GP IIb-IIIa antibodies nor labeled by surface iodination. In unreduced-reduced two-dimensional gel electrophoresis two components were observed in the region of GP IIIa. The assumption of a structural variant of GP IIIa in the two related patients is discussed.

Blood Platelet Disorders↗
PubMed1985

Becker muscular dystrophy: carrier detection by real-time ultrasound.

The applicability was tested of real-time ultrasound imaging to the high musculature for the carrier detection of Becker muscular dystrophy (BMD). A total of 17 obligate carriers were examined. Ultrasound images in 3 patients, aged between 46 and 59 years, showed moderate differences compared with the controls. In 3 other obligate carriers, aged between 46 and 71 years, only doubtfully abnormal findings could be made; ultrasound images showed no differences in 11 BMD carriers aged between 10 and 47 years. In women aged over 40 years, compared with adequate controls of the same body type, real-time ultrasound imaging may provide additional evidence and thus help in the detection of BMD carriers.

Adolescent↗
PubMed1985

[45,X/46,X,del(Yq) sex chromosome mosaicism--analysis of the phenotypic expression].

Three female patients with Turner-syndrome (sexual infantilism, short stature and somatic Turner-stigmata) have been analysed cytogenetically by means of different banding techniques. A deletion of the distal heterochromatic band Yq12 of the Y chromosome was observed in a mosaic with a 45,X-cell line, i.e. the karyotype is 45,X/46,X,del(Y)(q12). In order to get information about the phenotypic expression of the 45,X/46,X,del(Yq) mosaicism all previously published cases have been reviewed. Comparing the phenotypes of all 45,X/46,X,del(Yq) mosaic cases three different phenotype categories of sexual development can be distinguished: female individuals with sexual infantilism and Turner-stigmata, individuals with ambiguous genitals, ranging from clitoris hypertrophy of female genitals to hypospadia of males, male individuals, who are infertile (azoospermic). A comparison of the appearance of external genitals with the status of gonads of all patients revealed an unequivocal relationship between the gonad status and the resulting phenotype category. Furthermore, the role of Y-chromosomal loci determining testicular differentiation (biological function of H-Y antigen) for male development has been emphasized. The effect of the 45,X-cell line on the expression of short stature and somatic Turner-stigmata is independent of sexual development. Considering the great phenotypic variability of the 45,X/46,X,del(Yq) mosaicism it seems impossible to deduce a definitive phenotype. This problem is acute in prenatal diagnosis especially.

Adolescent↗
PubMed1984

Analysis of a familial 15p + polymorphism: exclusion of Y/15 translocation.

A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" small partial inversion 9q12;p11 or a centromeric variation. The transmission of these variant chromosomes as well as of some h + acrocentric chromosomes over three generations could be demonstrated. By means of AgI-staining large intercellular variation of Ag-NORs of the variant acrocentrics has been observed in the family members studied. The unusual accumulation of these variant chromosomes had no phenotypic effects.

Chromosome Aberrations↗
PubMed1983

Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia.

The concentration of the glycoprotein (GP) IIb-IIIa complex in thrombasthenic platelets of 8 patients of 6 families has been estimated. In the thrombasthenic platelets of 3 patients this complex is absent (thrombasthenia type I and subtype I). In 2 patients only traces are detectable and in 3 patients GP IIb-IIIa complex is strongly reduced (less than 5%). On the basis of the haemostatic data as well as the content of GP IIb-IIIa complex and platelet fibrinogen the classification of these types as subtypes of thrombasthenia type II is discussed. The diagnostic applicability of GP IIb-IIIa complex determination for heterozygote detection in types of thrombasthenia with absent or extremely reduced GP IIb-IIIa complex is shown.

Blood Platelet Disorders↗
PubMed1983

Carrier detection in X-linked Becker muscular dystrophy by muscle provocation test (MPT).

The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MGP than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes.

Adolescent↗
PubMed1983

Proteins and glycoproteins of monkey and human platelets. Comparison by high resolution two-dimensional gel electrophoresis.

1. The protein and glycoprotein composition of the blood platelets of six primate species have been compared by high resolution two-dimensional polyacrylamide gel electrophoresis. 2. Only minor differences have been observed in the protein patterns of all six species. 3. The glycopeptide patterns of the monkey platelets five species) were rather uniform, but clearly different from the human pattern.

Animals↗
PubMed1982

The effect of diamide (azodicarboxylic acid-bis-dimethylamide) on sulfhydryl group content, proteins, and the location of phosphatidylethanolamine in human blood platelets.

Treatment of human blood platelets with the thiol-oxidizing agent, diamide, causes rapid oxidation of glutathione and alterations in aggregation and release reaction. Moreover, cross-linking of proteins was observed. Three high molecular weight bands of 200 - 240 X 10(3) daltons and a band of 66 X 10(3) daltons were involved in this process. After reduction with dithiotreitol the normal pattern was received. In contrast to the erythrocyte, the cross-linking of platelet proteins was not accompanied by a reorientation of phosphatidylethanolamine in the membrane. Also a considerably smaller effect of diamide on platelet protein sulfhydryl group content was measured.

Azo Compounds↗
PubMed1982

Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia.

A patient with Glanzmann's thrombasthenia has been analysed by high resolution two-dimensional polyacrylamide gel electrophoresis and crossed immunoelectrophoresis. Although clot retraction is subnormal, glycoproteins IIb and IIIa are completely absent and platelet fibrinogen is strongly reduced indicating an unusual subtype of type II thrombasthenia. No changes in the pI of glycoproteins have been observed. Heterogeneity in Glanzmann's thrombasthenia is discussed.

Blood Platelets↗